AutismKB 2.0

Annotation Detail for COMMD6


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Basic Information Top
Gene Symbol:COMMD6 ( Acrg )
Gene Full Name: COMM domain containing 6
Band: 13q22.2
Quick LinksEntrez ID:170622; OMIM: 612377; Uniprot ID:COMD6_HUMAN; ENSEMBL ID: ENSG00000188243; HGNC ID: 24015
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body3 / 7076142
blastocyst1 / 6231916
fetus36 / 56401263
neonate1 / 3109732
infant2 / 2362084
juvenile0 / 555560 
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma9 / 10688384
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal177 / 336030752
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow8 / 48801163
brain36 / 110098932
cervix1 / 4817120
connective tissue17 / 149255113
ear3 / 16212185
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye17 / 21105480
heart17 / 89626189
intestine14 / 23447259
kidney7 / 21177733
larynx1 / 2414541
liver14 / 20774367
lung12 / 33697435
lymph1 / 4427022
lymph node1 / 9161010
mammary gland5 / 15327132
mouth1 / 6705214
muscle2 / 10771518
nerve2 / 15768126
ovary1 / 1020519
pancreas8 / 21481237
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate11 / 18934558
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis18 / 33044254
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus9 / 23287838
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P210717
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.11 ± 1.05
Basal Forebrain1.72 ± 0.19
Basal Part of Pons1.34 ± 0.35
Cerebellar Cortex1.63 ± 0.64
Cerebellar Nuclei2.09 ± 0.65
Claustrum2.44 ± 0.71
Epithalamus1.42 ± 0.76
Frontal Lobe1.63 ± 0.63
Globus Pallidus2.56 ± 0.68
Hypothalamus1.88 ± 0.74
Insula1.98 ± 0.74
Limbic Lobe1.71 ± 0.61
Mesencephalon1.87 ± 0.66
Myelencephalon1.76 ± 0.64
Occipital Lobe1.78 ± 0.85
Parietal Lobe1.74 ± 0.57
Pontine Tegmentum1.83 ± 0.67
Striatum1.82 ± 0.66
Subthalamus1.85 ± 0.69
Temporal Lobe1.63 ± 0.63
Thalamus1.69 ± 0.66
White Matter2.25 ± 0.41
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
COMD6_HUMAN_74 12 74 85 QFKEIAAVIETV PRIDE
PAp00432387 14 60 73 CFEMTIPQFQNFYR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018